Literature DB >> 9613388

Albinism: modern molecular diagnosis.

S M Carden1, R E Boissy, P J Schoettker, W V Good.   

Abstract

Mesh：

Year:  1998        PMID： 9613388      PMCID： PMC1722467          DOI： 10.1136/bjo.82.2.189

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  81 in total

Review 1.  Molecular genetics of oculocutaneous albinism.

Authors:  R A Spritz
Journal:  Hum Mol Genet       Date:  1994       Impact factor: 6.150

2.  Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Authors:  E G Puffenberger; E R Kauffman; S Bolk; T C Matise; S S Washington; M Angrist; J Weissenbach; K L Garver; M Mascari; R Ladda
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

3.  Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

Authors:  M Tassabehji; V E Newton; A P Read
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

4.  Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.

Authors:  K Fukai; S A Holmes; N J Lucchese; V M Siu; R G Weleber; R E Schnur; R A Spritz
Journal:  Nat Genet       Date:  1995-01       Impact factor: 38.330

5.  X linked ocular albinism in Japanese patients.

Authors:  T Shiono; M Tsunoda; Y Chida; M Nakazawa; M Tamai
Journal:  Br J Ophthalmol       Date:  1995-02       Impact factor: 4.638

6.  Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice.

Authors:  G Jeffery; G Schütz; L Montoliu
Journal:  Dev Biol       Date:  1994-12       Impact factor: 3.582

7.  Distinguishing between the catalytic potential and apparent expression of tyrosinase activities.

Authors:  H Zhao; R E Boissy
Journal:  Am J Med Sci       Date:  1994-12       Impact factor: 2.378

8.  The tyrosinase gene family--interactions of melanogenic proteins to regulate melanogenesis.

Authors:  A Winder; T Kobayashi; K Tsukamoto; K Urabe; P Aroca; K Kameyama; V J Hearing
Journal:  Cell Mol Biol Res       Date:  1994

9.  A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.

Authors:  E G Puffenberger; K Hosoda; S S Washington; K Nakao; D deWit; M Yanagisawa; A Chakravart
Journal:  Cell       Date:  1994-12-30       Impact factor: 41.582

10.  Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis.

Authors:  T Kobayashi; K Urabe; A Winder; C Jiménez-Cervantes; G Imokawa; T Brewington; F Solano; J C García-Borrón; V J Hearing
Journal:  EMBO J       Date:  1994-12-15       Impact factor: 11.598
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  9 in total

1.  The clinical features of albinism and their correlation with visual evoked potentials.

Authors:  S E Dorey; M M Neveu; L C Burton; J J Sloper; G E Holder
Journal:  Br J Ophthalmol       Date:  2003-06       Impact factor: 4.638

2.  Cloning and overexpression of an important functional gene ATP6V1F encoding a component of vacuolar ATPase from the Giant Panda (Ailuropoda melanoleuca).

Authors:  Yu-Jie Du; Yi-Ling Hou; Wan-Ru Hou
Journal:  Mol Biol Rep       Date:  2012-01-03       Impact factor: 2.316

3.  Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.

Authors:  H E Sepúlveda-Vázquez; C Villanueva-Mendoza; J C Zenteno; V Villegas-Ruiz; E Pelcastre-Luna; G García-Aguirre
Journal:  Int Ophthalmol       Date:  2014-02-14       Impact factor: 2.031

4.  Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Authors:  Jason E Hawkes; Pamela B Cassidy; Prashiela Manga; Raymond E Boissy; David Goldgar; Lisa Cannon-Albright; Scott R Florell; Sancy A Leachman
Journal:  J Dermatol Sci       Date:  2012-10-13       Impact factor: 4.563

5.  Ostracism of an albino individual by a group of pigmented catfish.

Authors:  Ondřej Slavík; Pavel Horký; Matúš Maciak
Journal:  PLoS One       Date:  2015-05-27       Impact factor: 3.240

6.  Visual deficits in Nepalese patients with oculocutaneous albinism.

Authors:  Safal Khanal; Amrit Pokharel; Himal Kandel
Journal:  J Optom       Date:  2015-03-29

7.  Analysis of the Refractive Profile of Children with Oculocutaneous Albinism versus an Age-Matched Non-Albino Group.

Authors:  Khulood Muhammad Sayed; Marwa Mahmoud Abdellah; Ahmad Gad Kamel
Journal:  Clin Ophthalmol       Date:  2021-01-08

8.  Pupil size variation as a response to stress in European catfish and its application for social stress detection in albino conspecifics.

Authors:  Ondřej Slavík; Pavel Horký; Josef Velíšek; Tereza Valchářová
Journal:  PLoS One       Date:  2020-12-31       Impact factor: 3.240

9.  How does agonistic behaviour differ in albino and pigmented fish?

Authors:  Ondřej Slavík; Pavel Horký; Marie Wackermannová
Journal:  PeerJ       Date:  2016-04-18       Impact factor: 2.984
  9 in total

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